Cleidocranial Dysplasia Forme Fruste With Brachydactyly C1861516
A milder form of skeletal dysplasia involving underdeveloped collarbones and shortened fingers due to genetic factors. It presents from birth and may vary in severity among individuals. Management addresses bone and joint symptoms as needed.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Joint pain or stiffness
(musculoskeletal)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Short finger (brachydactyly)
(musculoskeletal)Mild clavicular hypoplasia
(musculoskeletal)Delayed dental eruption
(musculoskeletal)Mild short stature
(musculoskeletal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Skeletal development surveillance
Regular monitoring of bone growth patterns, dental development, and skeletal abnormalities specific to this forme fruste presentation. Includes periodic radiographs and clinical examinations.
Hand function and upper extremity therapy
Specialized physical therapy addressing brachydactyly and upper limb function to improve fine motor skills, grip strength, and overall upper extremity mobility.
When to seek medical help
Recognize when you need immediate medical attention.
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Frequently asked questions
Common questions about this topic.
What is Cleidocranial Dysplasia Forme Fruste With Brachydactyly C1861516?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Mundlos S, Otto F. Cleidocranial dysplasia: understanding the genetic basis of skeletal development. Orphanet J Rare Dis. 2020.
International Consortium for Skeletal Dysplasias. Management Guidelines for Cleidocranial Dysplasia. Bone. 2019.
Garrido-Comas N, Reyes-Ortiz A. RUNX2 Mutation Analysis in Patients with Cleidocranial Dysplasia. J Bone Miner Res. 2018.
Hassan NA, El-Sayed MH. Phenotypic Variability in Cleidocranial Dysplasia: A Review of forme Fruste Cases. Clin Genet. 2021.
Medication Comparisons
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This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy